Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1401818080
rs1401818080
HGSNAT
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		TA 0.700 GeneticVariation CLINVAR Sanfilippo syndrome type C: mutation spectrum in the heparan sulfate acetyl-CoA: alpha-glucosaminide N-acetyltransferase (HGSNAT) gene. 19479962

2009